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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-112527108-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=112527108&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 112527108,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_145206.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "NM_145206.4",
"protein_id": "NP_660207.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 217,
"cds_start": 286,
"cds_end": null,
"cds_length": 654,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": "ENST00000393077.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "ENST00000393077.3",
"protein_id": "ENSP00000376792.2",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 217,
"cds_start": 286,
"cds_end": null,
"cds_length": 654,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": "NM_145206.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "ENST00000432306.5",
"protein_id": "ENSP00000395017.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 203,
"cds_start": 286,
"cds_end": null,
"cds_length": 612,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "NM_001318203.2",
"protein_id": "NP_001305132.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 224,
"cds_start": 286,
"cds_end": null,
"cds_length": 675,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "ENST00000705995.1",
"protein_id": "ENSP00000516199.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 224,
"cds_start": 286,
"cds_end": null,
"cds_length": 675,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "NM_001365711.1",
"protein_id": "NP_001352640.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 205,
"cds_start": 286,
"cds_end": null,
"cds_length": 618,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "NM_001365710.2",
"protein_id": "NP_001352639.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 203,
"cds_start": 286,
"cds_end": null,
"cds_length": 612,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "NM_001365712.1",
"protein_id": "NP_001352641.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 194,
"cds_start": 286,
"cds_end": null,
"cds_length": 585,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "NM_001365713.1",
"protein_id": "NP_001352642.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 194,
"cds_start": 286,
"cds_end": null,
"cds_length": 585,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "NM_001365714.1",
"protein_id": "NP_001352643.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 191,
"cds_start": 286,
"cds_end": null,
"cds_length": 576,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly",
"transcript": "NM_001318205.2",
"protein_id": "NP_001305134.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 187,
"cds_start": 286,
"cds_end": null,
"cds_length": 564,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "n.301A>G",
"hgvs_p": null,
"transcript": "ENST00000480057.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "n.311A>G",
"hgvs_p": null,
"transcript": "ENST00000489357.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"hgvs_c": "n.396A>G",
"hgvs_p": null,
"transcript": "ENST00000496445.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VTI1A",
"gene_hgnc_id": 17792,
"dbsnp": "rs776543021",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43830856680870056,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.302,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.681,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145206.4",
"gene_symbol": "VTI1A",
"hgnc_id": 17792,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ser96Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}